Myotubular Myopathy & Centronuclear Myopathy Resources for Families

Family Guide to Myotubular Myopathy(Click image to download pdf file)Written by parents, for parents, this is our community's "MTM 101".

From our friends at CureCMD, here is a comprehensive guide for care of all forms of Congenital Myopathy. (click image, then scroll down to "The Care of Congenital Myopathy: A Guide for Families"

The Myotubular Trust is a UK charity founded in 2006 by Anne Lennox and Wendy Hughes, two parents of children affected by myotubular myopathy. The Trust's charitable aim is: "The relief of disability and the extension of life for those suffering from myotubular myopathy, by promoting the study of, and research into, the treatment and cure of the muscle weakness caused by myotubular myopathy".

The Joshua Frase Foundation is an organization with two main goals: To find a cure or treatment for myotubular myopathy and to support families whose lives are affected by congenital myopathies.

The CMDIR is the only global registry for congenital muscle disease (CMD) with one goal, to achieve global registration of the CMD community. The CMDIR is a central hub for up to date information regarding CMD clinical studies and trials. Through the CMDIR, the CMD community has a home- a place to register with and without genetic confirmation of disease and a means by which to be contacted for clinical news.

The Information Point for Centronuclear and Myotubular Myopathy was established in 2001 by Toni Abram, and has three main aims:

to provide information about centronuclear and myotubular myopathy

to provide support by bringing people with the condition together, whatever their age, whatever form of the condition they have and wherever they may be in the world

to create awareness of this rare condition

Where There’s a Will There’s a Cure is dedicated to raising funds for the purpose of supporting scientific research that is actively pursuing cures and/or treatments for those affected with Myotubular Myopathy.

The Myotubular Myopathy Resource Group (MTMRG), created by the Scoggin family to provide online information and resources for families, was gracious to officially sponsor the Family Conference activities from 2009 to 2013 by allowing conference funds to be raised under their nonprofit to support the conference, prior to creation of MTM-CNM Family Connection, Inc.

ZNM – Zusammen stark!(CNM-Togetherstrong!)isthe associationforcentronuclearmyopathiesinGermany, and the organizers of the German Family Conference.Ourbasic idea isthat an individualaffectedoftenstands alone,butwetogethercanachieve a lot!

The Muscular Dystrophy Association is the world’s leading nonprofit health agency dedicated to saving and improving the lives of anyone with muscle disease, including muscular dystrophy, amyotrophic lateral sclerosis (ALS) and other neuromuscular diseases. It does so by funding worldwide research to find treatments and cures; by providing comprehensive health care services and support to MDA families nationwide; and by rallying communities to fight back through advocacy, fundraising and local engagement.

The National Organization for Rare Disorders (NORD), a 501(c)(3) organization, is the leading voice of the rare disease community. We are a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. For more than 30 years, we have been committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

Some instances of CNM are caused by defects in the RYR-1 gene. There are also other manifestations of RYR-1 mutations that result in other similar disorders besides CNM.The RYR1 Foundation was started by members of the Goldberg Family, who have been affected by RYR-1 muscle disease (myopathy). Currently, there is no other organization that exists solely to advocate for and serve the needs of patients with RYR-1 myopathy. The goal of the Foundation is to fill this much-needed void.

The Global Tracheostomy Collaborative is a multidisciplinary team of physicians, nurses, respiratory therapists, speech therapists and patients working together to disseminate best practices and improve outcomes around tracheostomy care.

Global Genes™ is one of the leading rare disease patient advocacy organizations in the world. The non-profit organization promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™. What began as a grassroots movement in 2009 , with just a few rare disease parent advocates and foundations , has since grown to over 500 global organizations.

Abilities Expo is about bringing necessary products and services together under one roof for the community of people with disabilities, their families, caregivers, seniors, and healthcare professionals. It's about introducing opportunities that can enrich your life ...especially ones that you never knew were out there. The Expos are held in major cities around the United States throughout the year.

Essential for every school health office, this fully illustrated reference is the ultimate guide to caring for and supporting children with special health care needs in educational settings. Includes a chapter contributed by our own Erin and Mark Ward.

Author Luke H. Davis is an MTM Dad. His mystery series features detective Cameron Ballack, who solves crimes while living with MTM.

Founded by the mother of a child born with MTM, Now I Lay Me Down to Sleep trains, educates, and mobilizes professional quality photographers to provide beautiful heirloom portraits to families facing the untimely death of an infant. We believe these images serve as an important step in the family’s healing process by honoring the child’s legacy.

Jacob Berry - "Miracle on a Mission!"

Make-A-Wish® grants the wish of a child diagnosed with a life-threatening medical condition in the United States and its territories, on average, every 38 minutes. We believe that a wish experience can be a game-changer. This one belief guides us. It inspires us to grant wishes that change the lives of the kids we serve.

Give Kids The World is a non-profit organization that exists only to fulfill the wishes of all children with life-threatening illnesses and their families from around the world to experience a memorable, joyful, cost-free visit to the Central Florida attractions, and to enjoy the magic of Give Kids The World Village for as long as there is a need.

Positive Exposure was founded in 1998 by award winning fashion photographer, Rick Guidotti. Positive Exposure utilizes photography and video to transform public perceptions of people living with genetic, physical and behavioral differences – from albinism to autism. Our educational and advocacy programs reach around the globe to promote a more inclusive, compassionate world where differences are celebrated. Rick Guidotti attended and photographed the 2009 MTM-CNM Family Conference.

Living in the Light, founded in 2012 by Levi Gershkowitz, began as an advocacy initiative utilizing the potency of photography and compelling personal narratives to educate about the realities of life faced by those with rare diseases. Since then, it has evolved to meet the complex needs of the rare disease community to ensure that its members are truly seen and heard as people, not patients.Levi attended and photographed the 2015 MTM-CNM Family Conference, and has visited and photographed several MTM-CNM families around the world as part of his ongoing work.

The Miracle League removes the barriers that keep children with mental and physical disabilities off the baseball field and lets them experience the joy of America’s favorite pastime. Since the main barriers for these adults arise from the natural grass fields used in conventional leagues, Miracle League teams play on a custom-designed, rubberized turf field that accommodates wheelchairs and other assertive devices while helping to prevent injuries.

The Challenger Division was established in 1989 as a separate division of Little League to enable boys and girls with physical and mental challenges, ages 4-18, or up to age 22 if still enrolled in high school, to enjoy the game of baseball along with the millions of other children who participate in this sport worldwide. Today, more than 30,000 children participate in more than 900 Challenger Divisions worldwide.

Abroad With Disabilities (AWD) is a nonprofit organization, founded in 2015. AWD is a growing and evolving online discussion platform, which serves as a resource and supportive environment for students with disabilities who wish to study, intern, volunteer, or work abroad. Our goal is to encourage and provide resources to those who desire to travel and not allow a disability to impede them from exploring the world.

All linked websites, logos, and written descriptions are the property of their respective owners. External links are provided for reference only, and MTM-CNM Family Connection Inc is not responsible for content or actions of externally linked websites.